학술논문
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'학술논문'
에서 검색결과 299건 | 목록
1~20
Academic Journal
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
Arts, Rob J.W. ; Bijker, Else M. ; Bruno, Mariolina ; Hobo, Willemijn ; Hoppenreijs, Esther ; de Jonge, Marien I. ; van Laarhoven, Arjan ; van der Molen, Renate ; Oud, Manon ; Schatorje, Ellen J.H. ; Smeets, Ruben ; Sprenkeler, Evelien G.G. ; Stol, Kim ; Verhagen, Lilly M. ; Zonneveld-Huijssoon, Evelien ; Vorsteveld, Emil E. ; Van der Made, Caspar I. ; Smeekens, Sanne P. ; Schuurs-Hoeijmakers, Janneke H. ; Astuti, Galuh ; Diepstra, Heleen ; Gilissen, Christian ; Hoenselaar, Evelien ; Janssen, Alice ; van Roozendaal, Kees ; Engelen, Jettie Sikkema-van ; Steyaert, Wouter ; Weiss, Marjan M. ; Yntema, Helger G. ; Mantere, Tuomo ; AlZahrani, Mofareh S. ; van Aerde, Koen ; Derfalvi, Beata ; Faqeih, Eissa Ali ; Henriet, Stefanie S.V. ; van Hoof, Elise ; Idressi, Eman ; Issekutz, Thomas B. ; Jongmans, Marjolijn C.J. ; Keski-Filppula, Riikka ; Krapels, Ingrid ; te Loo, Maroeska ; Mulders-Manders, Catharina M. ; ten Oever, Jaap ; Potjewijd, Judith ; Sarhan, Nora Tarig ; Slot, Marjan C. ; Terhal, Paulien A. ; Thijs, Herman ; Vandersteen, Anthony ; Vanhoutte, Els K. ; van de Veerdonk, Frank ; van Well, Gijs ; Netea, Mihai G. ; Simons, Annet ; Hoischen, Alexander
In Clinical Immunology November 2024 268
Academic Journal
Saleh, Mohammed M., MD; Hamhom, Abdulrahim M., MD; Al-Otaibi, Ali, MD; AlGhamdi, Malak, MD; Housawi, Yousef, MD; Aljadhai, Yaser I., MD; Alameer, Seham, MD; Almannai, Mohammed, MD; Jad, Lamyaa A., MD; Alwadei, Ali H., MD; Tabassum, Sadia, MD; Alsaman, Abdulaziz, MD; AlAsmari, Ali, MD; Al Mutairi, Fuad, MD; Althiyab, Hamad, MD; Bashiri, Fahad A., MD; AlHumaidi, Suzan, MD; Alfadhel, Majid, MD; Mink, Jonathan W., MD, PhD; AlHashim, Aqeela, MD; Faqeih, Eissa A., MD; Kentab, Amal; Muddathir, H.H.; Salih, M.A.; Mushiba, Aziza M.; Zada, A.P.; Bamajboor, Mohammed S.; Zameer, Sadique; AlBassam, Fahad; Mahmoud, Adel; Alnawfal, A.A.; AlAmr, Mushari; Bawazir, Maryam; Al Rumayyan, Ahmed; Al-Twaijri, Waleed; Alrifai, Muhammed Talal; Al Hajjaj, Sumayah
Pediatric Neurology. 155:149-155
Academic Journal
Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel ; Kalb, Reinhard ; McKee, Shane ; Hsieh, Tzung-Chien ; Seibt, Annette ; Schouwink, Marten ; Lalani, Seema ; Faqeih, Eissa Ali ; Brunet, Theresa ; Boor, Peter ; Neveling, Kornelia ; Hoischen, Alexander ; Hildebrandt, Barbara ; Graf, Elisabeth ; Lu, Linchao ; Jin, Weidong ; Schaper, Joerg ; Omer, Jamal A. ; Demaret, Tanguy ; Fleischer, Nicole ; Schindler, Detlev ; Krawitz, Peter ; Mayatepek, Ertan ; Wieczorek, Dagmar ; Wang, Lisa L. ; Antonin, Wolfram ; Jachimowicz, Ron D. ; von Felbert, Verena ; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 48-52 (2022)
Academic Journal
Grünert, Sarah C. ; Foster, William ; Schumann, Anke ; Lund, Allan ; Pontes, Christina ; Roloff, Sylvia ; Weinhold, Natalie ; Yue, Wyatt W. ; AlAsmari, Ali ; Obaid, Osama A. ; Faqeih, Eissa Ali ; Stübbe, Lisa ; Yamamoto, Raina ; Gemperle-Britschgi, Corinne ; Walter, Melanie ; Spiekerkoetter, Ute ; Mackinnon, Sabrina ; Sass, Jörn Oliver
In Biochimie April 2021 183:55-62
Academic Journal
Ramakrishna, Navin B.; Sahari, Umar Bin Mohamad; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordonez, Natalia; Ferreira, Mariana; Basto, Jorge Pinto; Alkuraya, Fowzan S.; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A. M.; Al Shamsi, Aisha; Elghazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W.; Al-Kindi, Said Ahmed Said; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoglu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W.; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A.; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R.; Bertoli-Avella, Aida M.; Reversade, Bruno; Abou Tayoun, Ahmad
Academic Journal
Moreno Traspas, Ricardo; Teoh, Tze Shin; Wong, Pui-Mun; Maier, Michael; Chia, Crystal Y.; Lay, Kenneth; Ali, Nur Ain; Larson, Austin; Al Mutairi, Fuad; Al-Sannaa, Nouriya Abbas; Faqeih, Eissa Ali; Alfadhel, Majid; Cheema, Huma Arshad; Dupont, Juliette; Bézieau, Stéphane; Isidor, Bertrand; Low, Dorrain Yanwen; Wang, Yulan; Tan, Grace; Lai, Poh San; Piloquet, Hugues; Joubert, Madeleine; Kayserili, Hulya; Kripps, Kimberly A.; Nahas, Shareef A.; Wartchow, Eric P.; Warren, Mikako; Bhavani, Gandham SriLakshmi; Dasouki, Majed; Sandoval, Renata; Carvalho, Elisa; Ramos, Luiza; Porta, Gilda; Wu, Bin; Lashkari, Harsha Prasada; AlSaleem, Badr; BaAbbad, Raeda M.; Abreu Ferrão, Anabela Natália; Karageorgou, Vasiliki; Ordonez-Herrera, Natalia; Khan, Suliman; Bauer, Peter; Cogne, Benjamin; Bertoli-Avella, Aida M.; Vincent, Marie; Girisha, Katta Mohan; Reversade, Bruno
Nature Genetics. 54(8):1214-1226
Academic Journal
Ansar, Muhammad ; Chung, Hyung-lok ; Al-Otaibi, Ali ; Elagabani, Mohammad Nael ; Ravenscroft, Thomas A. ; Paracha, Sohail A. ; Scholz, Ralf ; Abdel Magid, Tayseer ; Sarwar, Muhammad T. ; Shah, Sayyed Fahim ; Qaisar, Azhar Ali ; Makrythanasis, Periklis ; Marcogliese, Paul C. ; Kamsteeg, Erik-Jan ; Falconnet, Emilie ; Ranza, Emmanuelle ; Santoni, Federico A. ; Aldhalaan, Hesham ; Al-Asmari, Ali ; Faqeih, Eissa Ali ; Ahmed, Jawad ; Kornau, Hans-Christian ; Bellen, Hugo J. ; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 7 November 2019 105(5):907-920
Academic Journal
Monies, Dorota; Goljan, Ewa; Binmanee, Abdulaziz Mohammed; Alashwal, Abdullah Ali Zafir; Alsonbul, Abdullah Mohammed; Alhussaini, Abdulrahman A.; Abdallah, Alahmari Ali; Albenmousa, Ali Hussain; Almehaidib, Ali Ibrahim; Hassan, Ali Syed Akhtarul; Alharbi, Amal Salman Alseraihy; Alhabib, Amro; Podda, Antonello; Alsaleem, Badr; Al Saud, Bandar Bin Khalid; Bin Abbas, Bassam Saleh; Faqeih, Eissa Ali; Aljofan, Fahad Badei; Alhazzani, Fahad Naser; Alrowaily, Fouzah Awadh; Alzaidan, Hamad Ibrahim; Almousa, Hamoud Abdulkareem; Alsaedi, Hawazen Saleh; Ghemlas, Ibrahim Abdulaziz; Alsaleem, Khalid Abdulrahman; Saleh, Mahasen; Alghamdi, Malak; Shams, Marwa; Alabdulsalam, Moath; Bayoumy, Mohamed Salaheldin; Shagrani, Mohammad Ali; Alowain, Mohammed Abdulaziz; Ayas, Mouhab Fakhreddine; Qasim, Muhammad; Alshammari, Muneera J.; Qadi, Najeeb Shafat; Alzahrani, Ohoud Saleh; Arnaout, Rand K. H.; Alhamad, Reem; Mohammed, Reem Walid; Altassan, Ruqaiah Saleh; Alghamdi, Saad Ali; Khan, Saadiya Javed; Alalaiyan, Saleh Abdulrahman; Khan, Sameena; Albuhairi, Sultan Ibrahim; Algoufi, Talal Turki; Alayed, Tareq Mohammed; Alofisan, Tari; Aldekhail, Wajeeh Mohamed; Alhamoudi, Waleed; Kurdi, Wesam Ibrahim Yousef; Rahbeeni, Zuhair Abdalla
Genome Medicine. June 21, 2023, Vol. 15 Issue 1
Academic Journal
Burns, David T; Donkervoort, Sandra; Müller, Juliane S; Knierim, Ellen; Bharucha-Goebel, Diana; Faqeih, Eissa Ali; Bell, Stephanie K; AlFaifi, Abdullah Y; Monies, Dorota; Millan, Francisca; Retterer, Kyle; Dyack, Sarah; MacKay, Sara; Morales-Gonzalez, Susanne; Giunta, Michele; Munro, Benjamin; Hudson, Gavin; Scavina, Mena; Baker, Laura; Massini, Tara C; Lek, Monkol; Hu, Ying; Ezzo, Daniel; AlKuraya, Fowzan S; Kang, Peter B; Griffin, Helen; Foley, A Reghan; Schuelke, Markus; Horvath, Rita; Bönnemann, Carsten G
Am J Hum Genet
Academic Journal
Almannai, Mohammed, MD; Felemban, Rana, MD; Saleh, Mohammed A., MD; Faqeih, Eissa A., MD; Alasmari, Ali, MD; AlHashem, Amal, MD; Mohamed, Sarar, MD; Sunbul, Rawda, MD; Al-Murshedi, Fathiya, MD; AlThihli, Khalid, MD; Eyaid, Wafaa, MD; Ali, Rehab, MD; Ben-Omran, Tawfeg, MD; Blau, Nenad, MD, PhD; El-Hattab, Ayman W., MD; Alfadhel, Majid, MD
Pediatric Neurology. 96:40-47
Academic Journal
Amani Abu-Shaheen; Ahmad Al Badr; Isamme Al Fayyad; Adel Al Qutub; Eissa Ali Faqeih; Mohamad Al-Tannir
Trials, Vol 21, Iss 1, Pp 1-6 (2020)
Academic Journal
Maryam F. Bin Hadyan; Mohammed A. Saleh; Saad Aldalaqan; Aziza M. Mushiba; Ali M. Alasmari; Eissa A. Faqeih; Abdul A. Peer-Zada
Molecular Genetics and Metabolism Reports, Vol 46, Iss , Pp 101294- (2026)
Academic Journal
Afaf Alsagheir; Ali Mcrabi; Meshari Alquayt; Raghad Alhuthil; Afnan Alawi; Eissa Faqeih; Abrar Turki Alabdullatif; Doua Al Homyani; Amal AlJohany; Mariam AlOtaibi; Magdy Rabea; Hassan AlSayed; Mohamed H. Al-Hamed
Frontiers in Genetics, Vol 16 (2026)
Academic Journal
Khadijah Bakur; Halima Hamid; Bader Alhaddad; Majid Alfadhel; Amal Alhashem; Wafaa Eyaid; Talal Alanzi; Fuad Al Mutairi; Abdulrahman Alswaid; Farouq Ababneh; Malak Al Ghamdi; Sarar Mohamed; Ahmed Alaskar; Farjah Alqahtani; Hamad Alzaidan; Mohammed Al-Owain; Eissa A. Faqeih; Aziza M. Mushiba; Rola Alanazi; Basamat Almoallem; Norah Saleh Alsaleh; Saeed Al Tala; Muneera Alshammari; Alyazeed Turkistani; Ghadah Gosadi; Fahad Hakami; Fahad Alobaid; Hadeel Al Rukban; Ahmed Alfaidi; Rola Ba-Abbad; Mohammed A. Almuqbil; Ahmad Al-Boukai; Abdulrahman Saad Alamri; Ali Alshehri; Raashda A. Sulaiman; Ali Almontasheri; Enam Danish; Afaf AlSagheir; Deema Aljeaid; Bashayer S. Al-Awam; Aiman Shawli; Maha Al-Otaibi; Wed Sameer Majdali; Zohor Asaad Azher; Mohammed Almannai; Wail Baalawi; Saudi Adult Genomics Group; Lama AlAbdi; Touati Benoukraf; Fowzan S. Alkuraya
Genome Medicine, Vol 17, Iss 1, Pp 1-20 (2025)
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
Academic Journal
Ng, Bobby G; Xu, Gege; Chandy, Nandini; Steyermark, Joan; Shinde, Deepali N; Radtke, Kelly; Raymond, Kimiyo; Lebrilla, Carlito B; AlAsmari, Ali; Suchy, Sharon F; Powis, Zöe; Faqeih, Eissa Ali; Berry, Susan A; Kronn, David F; Freeze, Hudson H
American Journal of Human Genetics, vol 102, iss 1
Academic Journal
Abdulrahman Al-Hussaini; Mohammed AlMannai; Muhannad Alruwaithi; Eissa Faqeih; Ali Alasmari; Majid Alfadhel; Fuad Al Mutairi; Mohammed Saleh; Abdullah AlZaben; Yaser Alobailan; Moodhi Alharbi; Manal AlAfqi; Alaa Alayed; Abdul Ali Peer-Zada; Yasir Alrusayni
PLoS ONE, Vol 20, Iss 7 (2025)
Academic Journal
Abdullah S. Alshehri; Abdul A. Peer-Zada; Abeer A. Algadhi; Abdulwahed Aldehaimi; Mohammed A. Saleh; Aziza M. Mushiba; Eissa A. Faqeih; Ali M. AlAsmari
International Journal of Neonatal Screening, Vol 10, Iss 4, p 72 (2024)
Academic Journal
Al Mutairi, Fuad, MD; Alfadhel, Majid, MD; Nashabat, Marwan, MD; El-Hattab, Ayman W., MD; Ben-Omran, Tawfeg, MD; Hertecant, Jozef, MD; Eyaid, Wafaa, MD; Ali, Rehab, MD; Alasmari, Ali, MD; Kara, Majdi, MD; Al-Twaijri, Waleed, MD; Filimban, Rana, MD; Alshenqiti, Abduljabbar, MD; Al-Owain, Mohammed, Prof; Faqeih, Eissa, MD; Alkuraya, Fowzan S., Prof
Pediatric Neurology. 78:35-40
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[검색어] Faqeih, Eissa Ali
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